ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_20900 | This variant affects gene FBN1 (fibrillin 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTTAAAAGTAAGACATAAATAAAGACATTTCTAGAATGAG... | CAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTTAAAAGTAAGACATAAATAAAGACATTTCTAGAATGAG... |
Task1_train_20901 | Here is a variant affecting FBN1 (fibrillin 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Marfan syndrome | CAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTTAAAAGTAAGACATAAATAAAGACATTTCTAGAATGAG... | CAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTTAAAAGTAAGACATAAATAAAGACATTTCTAGAATGAG... |
Task1_train_20902 | This is a variant in FBN1 (fibrillin 1), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTACAGACTAAGTCCAATAAAGGGGATGGCCTATAACACAGGTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTA... | TTACAGACTAAGTCCAATAAAGGGGATGGCCTATAACACAGGTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTA... |
Task1_train_20903 | A sequence alteration has been identified in FBN1 (fibrillin 1) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Marfan syndrome | TTACAGACTAAGTCCAATAAAGGGGATGGCCTATAACACAGGTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTA... | TTACAGACTAAGTCCAATAAAGGGGATGGCCTATAACACAGGTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTA... |
Task1_train_20904 | Assess the clinical impact of this variant on gene FBN1 (fibrillin 1), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Marfan syndrome | TATAACACAGGTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGAT... | TATAACACAGGTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGAT... |
Task1_train_20905 | This variant affects gene FBN1 (fibrillin 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TATAACACAGGTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGAT... | TATAACACAGGTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGAT... |
Task1_train_20906 | This alteration occurs within gene FBN1 (fibrillin 1) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; not specified | TATAACACAGGTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGAT... | TATAACACAGGTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGAT... |
Task1_train_20907 | A genomic change on Chromosome 15 affects FBN1 (fibrillin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Marfan syndrome | GGTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACT... | GGTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACT... |
Task1_train_20908 | A variant affecting Chromosome 15, within the gene FBN1 (fibrillin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTG... | GTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTG... |
Task1_train_20909 | Mutation context: Chromosome 15, Gene FBN1 (fibrillin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Marfan syndrome | GTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTG... | GTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTG... |
Task1_train_20910 | Here is a mutation in FBN1 (fibrillin 1) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Marfan syndrome | GTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTG... | GTGAAGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTG... |
Task1_train_20911 | Gene FBN1 (fibrillin 1) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Marfan syndrome | AGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTGGAGA... | AGGTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTGGAGA... |
Task1_train_20912 | The following genetic variant occurs in FBN1 (fibrillin 1) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Marfan syndrome | GTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTGGAGAAA... | GTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTGGAGAAA... |
Task1_train_20913 | The gene FBN1 (fibrillin 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTGGAGAAA... | GTTGGCCCTTAGTACCAGTTCTGGGCTTTTACACAGAAGTTGGCTCGACCAAAGAAGTTCCTACAAGGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTGGAGAAA... |
Task1_train_20914 | Given this variant in gene FBN1 (fibrillin 1) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTGGAGAAACTGAGTAGTGTCACAGAGAAGCACTTCTATGATGTGGCATCTGATAATGTGGCTACTTGGCAAGAG... | GGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTGGAGAAACTGAGTAGTGTCACAGAGAAGCACTTCTATGATGTGGCATCTGATAATGTGGCTACTTGGCAAGAG... |
Task1_train_20915 | A genetic alteration is present in FBN1 (fibrillin 1) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Marfan syndrome | GGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTGGAGAAACTGAGTAGTGTCACAGAGAAGCACTTCTATGATGTGGCATCTGATAATGTGGCTACTTGGCAAGAG... | GGGGGTGGCAAATACATCAGCCGATGCCTCTTGGGCGTGATTCTGTGGTGGAAAACCCTCAGGACTGTCAGTCAGTCAGTGGGGGTTCCTGTCTAAGGCAGGTGGATTGTGCCTCTCTGGGCAACAGACACAGGAGCAGGAGTGTGTCTGCCTTGGGTTACAAGGGACCCAGCACCACCTCACTCACCAGGTCTGCCCTGCTTTGTATTCAGGATGTATAGAAACACAGGGGGCAGATTGCGCCACTGGAGAAACTGAGTAGTGTCACAGAGAAGCACTTCTATGATGTGGCATCTGATAATGTGGCTACTTGGCAAGAG... |
Task1_train_20916 | This alteration in FBN1 (fibrillin 1) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TGATCACGGACTGAAGTGGAGCCTACAAGAGCTGCTGCAATTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATT... | TGATCACGGACTGAAGTGGAGCCTACAAGAGCTGCTGCAATTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATT... |
Task1_train_20917 | The gene FBN1 (fibrillin 1) on Chromosome 15 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Acromicric dysplasia | TGATCACGGACTGAAGTGGAGCCTACAAGAGCTGCTGCAATTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATT... | TGATCACGGACTGAAGTGGAGCCTACAAGAGCTGCTGCAATTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATT... |
Task1_train_20918 | This sequence change occurs on Chromosome 15, altering FBN1 (fibrillin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Marfan syndrome | TGATCACGGACTGAAGTGGAGCCTACAAGAGCTGCTGCAATTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATT... | TGATCACGGACTGAAGTGGAGCCTACAAGAGCTGCTGCAATTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATT... |
Task1_train_20919 | Given this context: Chromosome 15, gene FBN1 (fibrillin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TGATCACGGACTGAAGTGGAGCCTACAAGAGCTGCTGCAATTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATT... | TGATCACGGACTGAAGTGGAGCCTACAAGAGCTGCTGCAATTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATT... |
Task1_train_20920 | Here is a mutation in FBN1 (fibrillin 1) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Geleophysic dysplasia 2 | TGATCACGGACTGAAGTGGAGCCTACAAGAGCTGCTGCAATTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATT... | TGATCACGGACTGAAGTGGAGCCTACAAGAGCTGCTGCAATTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATT... |
Task1_train_20921 | This alteration occurs within gene FBN1 (fibrillin 1) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CTGCAATTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATTCAGATGCCATTCATTCAGTGTGGGTTAGAACACG... | CTGCAATTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATTCAGATGCCATTCATTCAGTGTGGGTTAGAACACG... |
Task1_train_20922 | A variant was discovered on Chromosome 15, affecting FBN1 (fibrillin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Marfan syndrome | TTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATTCAGATGCCATTCATTCAGTGTGGGTTAGAACACGAAACAT... | TTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATTCAGATGCCATTCATTCAGTGTGGGTTAGAACACGAAACAT... |
Task1_train_20923 | Consider a variant on Chromosome 15 in gene FBN1 (fibrillin 1). Determine its clinical classification and disease relevance. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATTCAGATGCCATTCATTCAGTGTGGGTTAGAACACGAAACAT... | TTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATTCAGATGCCATTCATTCAGTGTGGGTTAGAACACGAAACAT... |
Task1_train_20924 | This sequence variant lies in FBN1 (fibrillin 1) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Geleophysic dysplasia 2 | TTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATTCAGATGCCATTCATTCAGTGTGGGTTAGAACACGAAACATC... | TTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATTCAGATGCCATTCATTCAGTGTGGGTTAGAACACGAAACATC... |
Task1_train_20925 | An alteration has been detected in FBN1 (fibrillin 1) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATTCAGATGCCATTCATTCAGTGTGGGTTAGAACACGAAACATCA... | TTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATTCAGATGCCATTCATTCAGTGTGGGTTAGAACACGAAACATCA... |
Task1_train_20926 | With a mutation on Chromosome 15 in gene FBN1 (fibrillin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Marfan syndrome | TTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATTCAGATGCCATTCATTCAGTGTGGGTTAGAACACGAAACATCA... | TTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATTCAGATGCCATTCATTCAGTGTGGGTTAGAACACGAAACATCA... |
Task1_train_20927 | The gene FBN1 (fibrillin 1) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CAGTGAAAATCAGTAAAAGATTTCTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGG... | CAGTGAAAATCAGTAAAAGATTTCTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGG... |
Task1_train_20928 | This variant impacts the gene FBN1 (fibrillin 1) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AAAGATTTCTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATAT... | AAAGATTTCTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATAT... |
Task1_train_20929 | Chromosome 15 houses a mutation in gene FBN1 (fibrillin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Marfan syndrome | AAAGATTTCTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATAT... | AAAGATTTCTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATAT... |
Task1_train_20930 | This genomic variant is located on Chromosome 15, within the FBN1 (fibrillin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Geleophysic dysplasia 2 | AAAGATTTCTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATAT... | AAAGATTTCTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATAT... |
Task1_train_20931 | This variant affects the gene FBN1 (fibrillin 1) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Acromicric dysplasia | AAAGATTTCTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATAT... | AAAGATTTCTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATAT... |
Task1_train_20932 | The gene FBN1 (fibrillin 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Marfan syndrome | CTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAAT... | CTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAAT... |
Task1_train_20933 | This variant affects the gene FBN1 (fibrillin 1) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAAT... | CTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAAT... |
Task1_train_20934 | This variant lies on Chromosome 15 and affects the gene FBN1 (fibrillin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Marfan syndrome | TAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAA... | TAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAA... |
Task1_train_20935 | This is a variant in FBN1 (fibrillin 1), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAA... | TAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAA... |
Task1_train_20936 | A genomic change on Chromosome 15 affects FBN1 (fibrillin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Marfan syndrome | AAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGA... | AAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGA... |
Task1_train_20937 | A mutation found in FBN1 (fibrillin 1) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGA... | AAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGA... |
Task1_train_20938 | This gene mutation involves FBN1 (fibrillin 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAAT... | ATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAAT... |
Task1_train_20939 | A variant affecting Chromosome 15, within the gene FBN1 (fibrillin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Marfan syndrome | ATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAAT... | ATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAAT... |
Task1_train_20940 | With a mutation on Chromosome 15 in gene FBN1 (fibrillin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Geleophysic dysplasia 2 | ACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGT... | ACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGT... |
Task1_train_20941 | With a mutation on Chromosome 15 in gene FBN1 (fibrillin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGT... | ACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGT... |
Task1_train_20942 | A variant affecting Chromosome 15, within the gene FBN1 (fibrillin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Marfan syndrome | ACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGT... | ACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGT... |
Task1_train_20943 | This mutation occurs in FBN1 (fibrillin 1) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTG... | CACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTG... |
Task1_train_20944 | Here is a variant affecting FBN1 (fibrillin 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Marfan syndrome | CACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTG... | CACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTG... |
Task1_train_20945 | Located on Chromosome 15, this mutation impacts FBN1 (fibrillin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATA... | CAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATA... |
Task1_train_20946 | Here is a variant affecting FBN1 (fibrillin 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Marfan syndrome | CAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATA... | CAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATA... |
Task1_train_20947 | The gene FBN1 (fibrillin 1) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | ACTTTCATATTATGAAATACGATTCTCCTGATTTTTTCCAACCATTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGT... | ACTTTCATATTATGAAATACGATTCTCCTGATTTTTTCCAACCATTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGT... |
Task1_train_20948 | The gene FBN1 (fibrillin 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | CAACCATTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTT... | CAACCATTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTT... |
Task1_train_20949 | An alteration has been detected in FBN1 (fibrillin 1) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Marfan syndrome | CAACCATTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTT... | CAACCATTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTT... |
Task1_train_20950 | A variant found in Chromosome 15 affects FBN1 (fibrillin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CAACCATTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTT... | CAACCATTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTT... |
Task1_train_20951 | Assess the clinical impact of this variant on gene FBN1 (fibrillin 1), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Marfan syndrome | CAACCATTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTT... | CAACCATTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTT... |
Task1_train_20952 | An alteration has been detected in FBN1 (fibrillin 1) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Marfan syndrome | TTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGA... | TTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGA... |
Task1_train_20953 | Located on Chromosome 15, this mutation impacts FBN1 (fibrillin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGA... | TTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGA... |
Task1_train_20954 | Assess the clinical impact of this variant on gene FBN1 (fibrillin 1), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGA... | TTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGA... |
Task1_train_20955 | The gene FBN1 (fibrillin 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGA... | TTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGA... |
Task1_train_20956 | A variant was discovered on Chromosome 15, affecting FBN1 (fibrillin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Marfan syndrome | TTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGA... | TTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGA... |
Task1_train_20957 | This is a variant in FBN1 (fibrillin 1), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGAT... | TTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGAT... |
Task1_train_20958 | Here is a variant affecting FBN1 (fibrillin 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Marfan syndrome | TGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATC... | TGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATC... |
Task1_train_20959 | Here’s a variant in FBN1 (fibrillin 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATC... | TGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATC... |
Task1_train_20960 | Gene FBN1 (fibrillin 1) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Marfan syndrome | TGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATC... | TGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATC... |
Task1_train_20961 | Here is a mutation in FBN1 (fibrillin 1) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Marfan syndrome | GCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCT... | GCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCT... |
Task1_train_20962 | Located on Chromosome 15, this mutation impacts FBN1 (fibrillin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTC... | AGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTC... |
Task1_train_20963 | Here is a genetic alteration in FBN1 (fibrillin 1) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Marfan syndrome | AGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTC... | AGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTC... |
Task1_train_20964 | This mutation occurs in FBN1 (fibrillin 1) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... |
Task1_train_20965 | The variant affects gene FBN1 (fibrillin 1), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Marfan syndrome | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... |
Task1_train_20966 | Gene FBN1 (fibrillin 1) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Marfan syndrome | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... |
Task1_train_20967 | This alteration in FBN1 (fibrillin 1) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ectopia lentis 1, isolated, autosomal dominant | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... |
Task1_train_20968 | A mutation in FBN1 (fibrillin 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Weill-Marchesani syndrome 2, dominant | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... |
Task1_train_20969 | This is a variant in FBN1 (fibrillin 1), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Acromicric dysplasia | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... |
Task1_train_20970 | A variant affecting Chromosome 15, within the gene FBN1 (fibrillin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Stiff skin syndrome | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... |
Task1_train_20971 | This variant impacts the gene FBN1 (fibrillin 1) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Geleophysic dysplasia 2 | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... |
Task1_train_20972 | The gene FBN1 (fibrillin 1) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; MASS syndrome | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... |
Task1_train_20973 | Here is a genetic alteration in FBN1 (fibrillin 1) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Marfan syndrome | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... |
Task1_train_20974 | Given this variant in gene FBN1 (fibrillin 1) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Progeroid and marfanoid aspect-lipodystrophy syndrome | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... | TTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCATGATAATTTCAACTAACCCAAATCATAATCTTGGCAAATGATGTCATCATCATATACATAATG... |
Task1_train_20975 | Here’s a variant in FBN1 (fibrillin 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GAAATAGTATCCTCAAGAGAAATACTCACATATCCAACTGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTC... | GAAATAGTATCCTCAAGAGAAATACTCACATATCCAACTGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTC... |
Task1_train_20976 | Consider this mutation in FBN1 (fibrillin 1) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Marfan syndrome | GAAATAGTATCCTCAAGAGAAATACTCACATATCCAACTGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTC... | GAAATAGTATCCTCAAGAGAAATACTCACATATCCAACTGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTC... |
Task1_train_20977 | Assess the clinical impact of this variant on gene FBN1 (fibrillin 1), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Stiff skin syndrome | AAATACTCACATATCCAACTGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCT... | AAATACTCACATATCCAACTGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCT... |
Task1_train_20978 | The gene FBN1 (fibrillin 1) on Chromosome 15 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Stiff skin syndrome | AAATACTCACATATCCAACTGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCT... | AAATACTCACATATCCAACTGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCT... |
Task1_train_20979 | A mutation in FBN1 (fibrillin 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Stiff skin syndrome | TGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTT... | TGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTT... |
Task1_train_20980 | A sequence alteration has been identified in FBN1 (fibrillin 1) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Marfan syndrome | TGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTT... | TGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTT... |
Task1_train_20981 | This mutation occurs in FBN1 (fibrillin 1) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTT... | TGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTT... |
Task1_train_20982 | A mutation found in FBN1 (fibrillin 1) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Weill-Marchesani syndrome 2, dominant | AAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTTCT... | AAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTTCT... |
Task1_train_20983 | This sequence change occurs on Chromosome 15, altering FBN1 (fibrillin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTTCT... | AAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTTCT... |
Task1_train_20984 | Here is a genetic alteration in FBN1 (fibrillin 1) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Marfan syndrome | AAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTTCT... | AAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTTCT... |
Task1_train_20985 | The following genetic variant occurs in FBN1 (fibrillin 1) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; FBN1-related disorder | AAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTTCTT... | AAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTTCTT... |
Task1_train_20986 | A variant was discovered on Chromosome 15, affecting FBN1 (fibrillin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Marfan syndrome | AAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTTCTT... | AAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTTCTT... |
Task1_train_20987 | Given this variant in gene FBN1 (fibrillin 1) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTTCTT... | AAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCTTAATTGGCTTCTT... |
Task1_train_20988 | A genetic alteration is present in FBN1 (fibrillin 1) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Marfan syndrome | TCCCCCATTAATTCTTTCATCCAAGTATTTTACCCAGAAACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAA... | TCCCCCATTAATTCTTTCATCCAAGTATTTTACCCAGAAACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAA... |
Task1_train_20989 | Given this variant in gene FBN1 (fibrillin 1) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TCCCCCATTAATTCTTTCATCCAAGTATTTTACCCAGAAACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAA... | TCCCCCATTAATTCTTTCATCCAAGTATTTTACCCAGAAACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAA... |
Task1_train_20990 | The gene FBN1 (fibrillin 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Marfan syndrome | TTAATTCTTTCATCCAAGTATTTTACCCAGAAACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGT... | TTAATTCTTTCATCCAAGTATTTTACCCAGAAACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGT... |
Task1_train_20991 | The gene FBN1 (fibrillin 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTAATTCTTTCATCCAAGTATTTTACCCAGAAACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGT... | TTAATTCTTTCATCCAAGTATTTTACCCAGAAACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGT... |
Task1_train_20992 | Chromosome 15 houses a mutation in gene FBN1 (fibrillin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Marfan syndrome | CAAGTATTTTACCCAGAAACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCC... | CAAGTATTTTACCCAGAAACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCC... |
Task1_train_20993 | This variant lies on Chromosome 15 and affects the gene FBN1 (fibrillin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Marfan syndrome | CAAGTATTTTACCCAGAAACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCC... | CAAGTATTTTACCCAGAAACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCC... |
Task1_train_20994 | Gene FBN1 (fibrillin 1) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Marfan syndrome | AACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAA... | AACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAA... |
Task1_train_20995 | Given a variant located on Chromosome 15 and affecting FBN1 (fibrillin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAA... | AACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAA... |
Task1_train_20996 | A change on Chromosome 15 affects gene FBN1 (fibrillin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Marfan syndrome | ACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAA... | ACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAA... |
Task1_train_20997 | This sequence variant lies in FBN1 (fibrillin 1) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAA... | ACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAA... |
Task1_train_20998 | Given this context: Chromosome 15, gene FBN1 (fibrillin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Marfan syndrome | CATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAAT... | CATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAAT... |
Task1_train_20999 | Here’s a variant in FBN1 (fibrillin 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAAT... | CATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTGTGGATATCTATTGTTTTGCTACTGTCATTAATCTACAAAGCTGACTCCCCAAATTAAGTGTCTTAGTTTGCCCCCTTCGACACCAATGAAAT... |
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